Disorders of sexual development in 46,XX individuals: an update
Abstract Disruption of the processes of sexual determination or sexual differentiation by any genetic or environmental factor may result in a disorder of sexual development (DSD) with discordance among chromosomal, gonadal, and anatomical sex. Materials and methods: In order to update concepts related to DSD with 46,XX karyotype without numeric or structural abnormalities, a search of information was carried out for the last 10 years in which three subcategories are described: Disorders of gonadal (ovarian) development, Disorders related to androgenic excess and other abnormalities (vaginal atresia, cloacal exstrophy, uterine abnormalities and labial adhesions). Conclusion: The great variability of phenotypical manifestations in this kind of DSD may create confusion in diagnostic approaches guided by clinical findings. This presentation variability, paired with a lack of knowledge of the pathophysiology, can contribute to delayed or non-conclusive diagnoses. For these reasons, deepening the knowledge of the causes and clinical manifestations of this class of clinical conditions will result in the well-being of the patient and his family.
| Main Authors: | , , , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Sociedad Mexicana de Urología
2021
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| Online Access: | http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2007-40852021000400006 |
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